rs786201006
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (TCGCTCCT;TCGCTCCT) | 0 | common in clinvar |
| Make rs786201006(-;-) |
| Make rs786201006(-;TCGCTCCT) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 5 |
| Position | 159323113 |
| Gene | IL12B, LOC107986469 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs786201006 |
| dbSNP (classic) | rs786201006 |
| ClinGen | rs786201006 |
| ebi | rs786201006 |
| HLI | rs786201006 |
| Exac | rs786201006 |
| Gnomad | rs786201006 |
| Varsome | rs786201006 |
| LitVar | rs786201006 |
| Map | rs786201006 |
| PheGenI | rs786201006 |
| Biobank | rs786201006 |
| 1000 genomes | rs786201006 |
| hgdp | rs786201006 |
| ensembl | rs786201006 |
| geneview | rs786201006 |
| scholar | rs786201006 |
| rs786201006 | |
| pharmgkb | rs786201006 |
| gwascentral | rs786201006 |
| openSNP | rs786201006 |
| 23andMe | rs786201006 |
| SNPshot | rs786201006 |
| SNPdbe | rs786201006 |
| MSV3d | rs786201006 |
| GWAS Ctlg | rs786201006 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs786201006(-;-) |
| Alt | rs786201006(-;-) |
| Reference | Rs786201006(TCGCTCCT;TCGCTCCT) |
| Significance | Pathogenic |
| Disease | Immunodeficiency 29 |
| Variation | info |
| Gene | IL12B |
| CLNDBN | Immunodeficiency 29 |
| Reversed | 1 |
| HGVS | NC_000005.9:g.158750121_158750128delAGGAGCGA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000162204.4, |
